CDKL5 Proband Entry
Entry ID: cp455
Systematic name: c.532C>T
Protein name: p.Arg178Trp
Alternate name(s): p.R178W
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - 60:40
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608493
Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952
Publication ID: Patient 6
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.532C>T | p.Arg178Trp | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
c.532C>T | p.Arg178Trp | Rett syndrome - congenital onset | Female | Directly submitted | cp265 |
c.532C>T | p.Arg178Trp | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp335 |
Displaying a total number of 3 proband entries.